Canonical Allele Identifier: CA2575138410
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993503del , CM000674.2:g.47993503del GRCh38
NC_000012.11:g.48387286del , CM000674.1:g.48387286del GRCh37
NC_000012.10:g.46673553del NCBI36
NG_008072.1:g.16002del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.719del
ENST00000380518.8:c.926del
ENST00000337299.6:c.719del
ENST00000380518.7:c.926del
NM_001844.4:c.926del
NM_033150.2:c.719del
XM_006719242.2:c.1070del
XM_011537928.1:c.1070del
XM_011537929.1:c.1070del
XM_011537930.1:c.1070del
XM_011537931.1:c.1070del
XM_011537932.1:c.1070del
XM_011537933.1:c.1070del
XM_011537934.1:c.1067del
XM_017018828.1:c.1070del
XM_017018829.1:c.1067del
XM_017018830.1:c.860del
XM_017018831.2:c.380del
NM_001844.5:c.926del
NM_033150.3:c.719del